|
DOID:0111515 - autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Disease Ontology Definition:A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.
Synonyms: PEOB2, adult-onset CPEO with mitochondrial myopathy, adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, autosomal recessive progressive external ophthalmoplegia 2,
Xenbase Genes : rnaseh1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee